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progressive myoclonus epilepsy 1A
Summary
- Synonym
-
- EPM1A
- Definition
- An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in the CSTB gene on chromosome 21q22.3.
- Super Class
- Unverricht-Lundborg syndrome autosomal recessive disease
External Links
- Disease Ontology
- DOID:0111452
- Mondo Disease Ontology
- OMIM
